Canonical Allele Identifier: CA2463394

Gene: APPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.57235580A>G , CM000665.2:g.57235580A>G	GRCh38
NC_000003.11:g.57269608A>G , CM000665.1:g.57269608A>G	GRCh37
NC_000003.10:g.57244648A>G	NCBI36
NG_047003.1:g.12844A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_012096.3:c.69A>G MANE Select	NP_036228.1:p.Leu23=
ENST00000288266.8:c.69A>G MANE Select	ENSP00000288266.3:p.Leu23=
NM_012096.2:c.69A>G	NP_036228.1:p.Leu23=
ENST00000288266.7:c.69A>G	ENSP00000288266.3:p.Leu23=
ENST00000444459.1:c.18A>G	ENSP00000406095.1:p.Leu6=
ENST00000468342.1:n.114A>G
ENST00000482800.5:n.164A>G
ENST00000495803.5:c.69A>G	ENSP00000419644.1:p.Leu23=
ENST00000650354.1:c.69A>G	ENSP00000498115.1:p.Leu23=
XM_011533583.1:c.18A>G	XP_011531885.1:p.Leu6=
XM_011533583.3:c.18A>G	XP_011531885.1:p.Leu6=